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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AQP5

Variant:p.I177N

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AQP5

NM_001651.4:p.I177N

hg38:chr12:49964093 T>A

Associated Papers

AQP5 pathogenic variants induce palmoplantar keratoderma Bothnia type in two Chinese families.

Wang Y et al.

The Journal of Dermatology, 2022

35014096 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."